Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Slc9a3'

30016

Institutional Source

Beutler Lab

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 3

Synonyms

9030624O13Rik, NHE-3, NHE3

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74157607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 248 (S248A)

Ref Sequence

ENSEMBL: ENSMUSP00000152682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]

AlphaFold

G3X939

Predicted Effect

probably damaging
Transcript: ENSMUST00000036208
AA Change: S248A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: S248A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_H_Exchanger	53	457	3.6e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221703
AA Change: S248A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000225423
AA Change: S248A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.4579

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,045,371	Y255*	probably null	Het
2310003L06Rik	A	T	5: 87,964,596		probably benign	Het
Abcb5	A	G	12: 118,940,332	S213P	probably damaging	Het
Agpat1	A	G	17: 34,610,577	I42V	probably benign	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
BB014433	G	T	8: 15,042,540	C104*	probably null	Het
Bsn	C	T	9: 108,111,846	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,793,910	E19G	probably damaging	Het
Ces1g	T	C	8: 93,328,535		probably benign	Het
Cfap65	T	A	1: 74,920,601	M797L	probably benign	Het
Col14a1	A	G	15: 55,407,868		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col27a1	G	T	4: 63,314,727		probably null	Het
Col6a4	T	A	9: 105,997,146	H2214L	probably benign	Het
Ctu2	T	G	8: 122,478,193	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,491,699	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,216,031	V503E	probably benign	Het
Diaph3	T	C	14: 86,969,502	R501G	probably benign	Het
Dip2b	A	G	15: 100,211,993	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,529,531	T119M	probably benign	Het
F5	T	G	1: 164,179,449	V274G	probably damaging	Het
Farp1	A	T	14: 121,255,396		probably benign	Het
Foxf1	T	C	8: 121,085,003	V202A	possibly damaging	Het
Fras1	G	A	5: 96,762,590	V3293I	probably damaging	Het
Fuk	T	C	8: 110,893,259		probably null	Het
Furin	C	T	7: 80,391,284	G602D	probably damaging	Het
Gclm	T	C	3: 122,255,620		probably benign	Het
Gemin4	G	A	11: 76,212,162	T591M	probably benign	Het
Glrx3	T	C	7: 137,453,485	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,436		probably benign	Het
Helq	T	C	5: 100,790,200	N460S	probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Kpna2	A	G	11: 106,991,322	L226S	probably damaging	Het
Myom3	G	A	4: 135,778,143	V448M	probably damaging	Het
Nalcn	A	G	14: 123,299,168	S1224P	probably damaging	Het
Olfr1354	A	G	10: 78,917,343	T168A	probably benign	Het
Olfr504	C	T	7: 108,565,514	D94N	probably benign	Het
Olfr666	A	T	7: 104,893,314	F105I	probably damaging	Het
Plag1	C	T	4: 3,904,546	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,680		probably benign	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,533,488	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,176		probably benign	Het
Rad51ap1	A	T	6: 126,934,741	V61D	probably damaging	Het
Reln	G	A	5: 22,048,800	L605F	probably damaging	Het
Riok3	T	C	18: 12,148,949	I325T	probably damaging	Het
Sclt1	A	T	3: 41,661,570		probably null	Het
Slc25a39	A	G	11: 102,406,569	V24A	possibly damaging	Het
Slco6d1	T	A	1: 98,466,697	C369S	probably benign	Het
Spen	T	C	4: 141,516,870	S285G	unknown	Het
Stxbp5l	A	G	16: 37,216,078		probably benign	Het
Thsd7a	G	A	6: 12,352,031	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,699,789	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,341,136		noncoding transcript	Het
Triml1	A	T	8: 43,130,505	V353E	probably damaging	Het
Ttn	G	A	2: 76,719,057	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,250,584	Q331R	probably benign	Het
Urb1	A	G	16: 90,791,160	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,527,274	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 12,259,950	T244S	probably damaging	Het
Vps13a	A	G	19: 16,641,577	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,766,866	M166V	probably damaging	Het
Zfp296	T	C	7: 19,579,939	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689	H737R	probably damaging	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74160302	missense	probably benign	0.19
IGL01299:Slc9a3	APN	13	74160263	missense	probably benign	0.33
IGL01390:Slc9a3	APN	13	74150761	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74165972	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74158848	missense	probably damaging	0.99
IGL02072:Slc9a3	APN	13	74165859	missense	probably benign	0.00
IGL02186:Slc9a3	APN	13	74163114	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74165357	nonsense	probably null
IGL03056:Slc9a3	APN	13	74150819	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74158728	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74159424	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74121536	missense	unknown
R0396:Slc9a3	UTSW	13	74157784	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74159246	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74150743	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74158818	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74163071	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74161770	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74166056	splice site	probably null
R2048:Slc9a3	UTSW	13	74163741	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74121603	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74158703	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74158760	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74121669	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74161732	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74158886	nonsense	probably null
R4581:Slc9a3	UTSW	13	74164165	missense	probably damaging	0.99
R4841:Slc9a3	UTSW	13	74165837	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74157719	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74164293	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74164287	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74150960	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74163712	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74161723	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74158740	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74155161	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74164172	missense	probably damaging	0.99
R7145:Slc9a3	UTSW	13	74150678	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74157694	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74160276	missense	possibly damaging	0.88
R8032:Slc9a3	UTSW	13	74157644	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74166027	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74155122	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74164288	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74157704	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74163776	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74150801	missense	probably damaging	1.00
R9741:Slc9a3	UTSW	13	74158875	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74165856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAATGCCCTCTACCATGTAGTC -3'
(R):5'- GGAACTTACGCCAGGATGGATGAC -3'

Sequencing Primer
(F):5'- TCCTGCACTAAACTTGGAGATCAG -3'
(R):5'- TGGATGACAAAGACAGCATCTC -3'

Posted On

2013-04-24